ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA291206
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137569
ClinVar RCV Id:
RCV000125396
RCV000353935
RCV000857369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003631.2:p.Ser251Gly
CA291204
NM_003640.5:c.751A>G